List of variants in gene combination LOC107648851, TAP2 reported as benign for MHC class I deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001290043.2(TAP2):c.494-42G>C	rs2071465	0.39868
NM_001290043.2(TAP2):c.608+7G>A	rs2071466	0.26274
NM_001290043.2(TAP2):c.739+12A>T	rs28724898	0.05022
NM_001290043.2(TAP2):c.608+8G>A	rs2071467	0.03652
NM_001290043.2(TAP2):c.494-11G>T	rs56115039	0.01338
NM_001290043.2(TAP2):c.658C>A (p.Arg220=)	rs142794316	0.00886

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.